Canonical Allele Identifier: CA2128186

Gene: GMPPA ASIC4-AS1

Linked Data

• ClinVar Variation Id: 507436
• ClinVar RCV Id: RCV000604660 ; RCV002062944
• dbSNP Id: rs202131537
• ExAC: 2:220367179 G / A
• gnomAD v2: 2-220367179-G-A
• gnomAD v3: 2-219502457-G-A
• gnomAD v4: 2-219502457-G-A
• MyVariant Identifiers: chr2:g.220367179G>A (hg19) ; chr2:g.219502457G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219502457G>A , CM000664.2:g.219502457G>A	GRCh38
NC_000002.11:g.220367179G>A , CM000664.1:g.220367179G>A	GRCh37
NC_000002.10:g.220075423G>A	NCBI36
NG_033833.1:g.8593G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341142.8:c.489+16G>A (GMPPA)	ENSP00000340760.3:n.489+16G>A
ENST00000435316.6:c.384+16G>A (GMPPA)	ENSP00000411060.1:n.384+16G>A
ENST00000455657.6:c.489+16G>A (GMPPA)	ENSP00000392465.3:n.489+16G>A
ENST00000480506.6:n.810+16G>A (GMPPA)
ENST00000496536.2:n.493+16G>A (GMPPA)
ENST00000622191.2:c.489+16G>A (GMPPA)	ENSP00000478700.2:n.489+16G>A
ENST00000682058.1:c.489+16G>A (GMPPA)	ENSP00000507378.1:n.489+16G>A
ENST00000682102.1:c.489+16G>A (GMPPA)	ENSP00000508279.1:n.489+16G>A
ENST00000682340.1:n.854+16G>A (GMPPA)
ENST00000682435.1:n.418+16G>A (GMPPA)
ENST00000682443.1:n.1120+16G>A (GMPPA)
ENST00000682481.1:c.*119+16G>A (GMPPA)	ENSP00000507331.1:n.*119+16G>A
ENST00000682488.1:c.69+2308G>A (GMPPA)	ENSP00000507140.1:n.69+2308G>A
ENST00000682576.1:c.489+16G>A (GMPPA)	ENSP00000508370.1:n.489+16G>A
ENST00000683106.1:n.854+16G>A (GMPPA)
ENST00000683131.1:c.*119+16G>A (GMPPA)	ENSP00000507530.1:n.*119+16G>A
ENST00000683241.1:n.854+16G>A (GMPPA)
ENST00000683382.1:n.578+16G>A (GMPPA)
ENST00000683386.1:c.*119+16G>A (GMPPA)	ENSP00000507844.1:n.*119+16G>A
ENST00000683402.1:c.489+16G>A (GMPPA)	ENSP00000507137.1:n.489+16G>A
ENST00000683591.1:c.489+16G>A (GMPPA)	ENSP00000508406.1:n.489+16G>A
ENST00000683598.1:c.489+16G>A (GMPPA)	ENSP00000508168.1:n.489+16G>A
ENST00000683617.1:n.576+16G>A (GMPPA)
ENST00000683626.1:c.*119+16G>A (GMPPA)	ENSP00000507216.1:n.*119+16G>A
ENST00000683691.1:c.*380+16G>A (GMPPA)	ENSP00000508392.1:n.*380+16G>A
ENST00000683746.1:n.425+16G>A (GMPPA)
ENST00000683752.1:c.139-1626G>A (GMPPA)	ENSP00000507197.1:n.139-1626G>A
ENST00000683864.1:c.*255+16G>A (GMPPA)	ENSP00000507147.1:n.*255+16G>A
ENST00000683946.1:c.489+16G>A (GMPPA)	ENSP00000506941.1:n.489+16G>A
ENST00000684227.1:c.489+16G>A (GMPPA)	ENSP00000507190.1:n.489+16G>A
ENST00000684242.1:n.513+16G>A (GMPPA)
ENST00000684274.1:n.854+16G>A (GMPPA)
ENST00000684334.1:n.560+16G>A (GMPPA)
ENST00000684412.1:n.835+16G>A (GMPPA)
ENST00000684562.1:n.854+16G>A (GMPPA)
ENST00000684706.1:n.553+16G>A (GMPPA)
ENST00000684729.1:c.489+16G>A (GMPPA)	ENSP00000507441.1:n.489+16G>A
ENST00000313597.10:c.489+16G>A (GMPPA) MANE Select	ENSP00000315925.6:n.489+16G>A
ENST00000313597.9:c.489+16G>A (GMPPA)	ENSP00000315925.5:n.489+16G>A
ENST00000341142.7:c.489+16G>A (GMPPA)	ENSP00000340760.3:n.489+16G>A
ENST00000358215.8:c.489+16G>A (GMPPA)	ENSP00000350949.3:n.489+16G>A
ENST00000373908.5:c.489+16G>A (GMPPA)	ENSP00000363016.1:n.489+16G>A
ENST00000373917.7:c.489+16G>A (GMPPA)	ENSP00000363027.3:n.489+16G>A
ENST00000435316.5:c.384+16G>A (GMPPA)	ENSP00000411060.1:n.384+16G>A
ENST00000443704.5:c.489+16G>A (GMPPA)	ENSP00000396750.1:n.489+16G>A
ENST00000455657.5:c.489+16G>A (GMPPA)	ENSP00000392465.2:n.489+16G>A
ENST00000481170.1:n.2218+16G>A (GMPPA)
ENST00000622191.1:c.489+16G>A (GMPPA)	ENSP00000478700.1:n.489+16G>A
ENST00000635609.1:n.489+684G>A (GMPPA)
NM_013335.3:c.489+16G>A (GMPPA)	NP_037467.2:n.489+16G>A
NM_205847.2:c.489+16G>A (GMPPA)	NP_995319.1:n.489+16G>A
XM_005246483.2:c.489+16G>A (GMPPA)	XP_005246540.1:n.489+16G>A
XM_005246485.2:c.489+16G>A (GMPPA)	XP_005246542.1:n.489+16G>A
XM_005246486.2:c.489+16G>A (GMPPA)	XP_005246543.1:n.489+16G>A
XM_011511032.1:c.489+16G>A (GMPPA)	XP_011509334.1:n.489+16G>A
XM_011511033.1:c.114+16G>A (GMPPA)	XP_011509335.1:n.114+16G>A
XM_011511034.1:c.489+16G>A (GMPPA)	XP_011509336.1:n.489+16G>A
XM_011511035.1:c.489+16G>A (GMPPA)	XP_011509337.1:n.489+16G>A
XR_241307.2:n.583+16G>A (GMPPA)
XR_923921.1:n.352+14239C>T (ASIC4-AS1)
XM_005246486.3:c.489+16G>A (GMPPA)	XP_005246543.1:n.489+16G>A
XM_024452823.1:c.489+16G>A (GMPPA)	XP_024308591.1:n.489+16G>A
XR_923921.2:n.391+14239C>T (ASIC4-AS1)
NM_001374294.1:c.489+16G>A (GMPPA)	NP_001361223.1:n.489+16G>A
NM_001374295.1:c.489+16G>A (GMPPA)	NP_001361224.1:n.489+16G>A
NM_013335.4:c.489+16G>A (GMPPA) MANE Select	NP_037467.2:n.489+16G>A
NM_205847.3:c.489+16G>A (GMPPA)	NP_995319.1:n.489+16G>A